Table 6.

WARS2 Pathogenic Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_015836​.4
NP_056651​.1 		c.37T>Gp.Trp13GlyHypomorphic variant that is not disease causing if homozygous but is disease causing when in trans w/loss-of-function pathogenic variant [Ilinca et al 2022, Skorvanek et al 2022] (See Genotype-Phenotype Correlations.)

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: WARS2 Deficiency

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